Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome:: a study of 'hidden' mosaicism

被引:51
作者
Fernández-García, R
García-Doval, S
Costoya, S
Pásaro, E
机构
[1] Univ A Coruna, Dept Psychobiol, A Coruna 15071, Spain
[2] Univ A Coruna, Inst Hlth Sci, A Coruna 15071, Spain
关键词
dicentric chromosome; FISH; gonadoblastoma; marker chromosome; mosaicism; PCR; SRY gene; Turner syndrome; X chromosome; Y chromosome;
D O I
10.1034/j.1399-0004.2000.580307.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We performed a genetic study of sex chromosome mosaicism in 41 Turner syndrome patients. The investigation was carried out in four phases: cytogenetics (G-banding), FISH, PCR for SRY in all 41 cases, and sequencing of the SRY gene in the 2 patients with the Y chromosome. The application of classical alpha-satellite probes (CEP-X and CEP-Y), painting probes (WCP-X and WCP-Y) and also XIST, DXZ4 and two subchromosomal painting libraries (SCPL116 and SCPL102) covering the short and the long arm of the X chromosome, respectively, allowed us to find new mosaic cell lines (mosaicism) in 37 out of 41 patients; only 4 patients were defined as 45,X non-mosaic. The most frequent hidden mosaic was 45,X/46,XX in 32% of the cases; the presence of isochromosomes comprised 25% and markers 5%. The patients who had been previously diagnosed as mosaics displayed a higher complexity in their karyotypes due to the presence of new cell lines. The Y chromosome and the SRY gene were present in blood and ovarian tissue in 2 patients with karyotypes 45,X/46,XY and 45,X/46,X,idic(Y-nf). In both patients, the sequencing of the SRY gene confirmed a nucleotide sequence identical to that of a control male. Our results support the hypothesis of 'the necessity of mosaicism for survival', and thus, a mitotic origin for this syndrome.
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页码:201 / 208
页数:8
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